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Details
Link-It Detail - Human Phenotype - Abnormality of the atrioventricular valves
Debug Stats
  • ### Total Build Time: 43 ms 29.122 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 217 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 211 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 798 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.756 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=10 ms Completed: 10 ms rowSize= 2.111 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=23 ms Completed: 23 ms rowSize= 22.877 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.036 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the atrioventricular valves HP:0006705
Definition (1)
An abnormality of an `atrioventricular valve` (FMA:7233).
Parents (2)
img Abnormality of the heart valves HP:0001654
img Malformation of the heart and great vessels HP:0002564
Children (5)
img Abnormality of the mitral valve HP:0001633
img Atrioventricular valves thickened HP:0006675
img Atrioventricular canal defect HP:0006695
img Abnormality of the tricuspid valve HP:0001702
img Imperforate atrioventricular valve HP:0011574
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the heart valves HP:0001654
img All HP:0000001img Phenotypic abnormality HP:00001186img Malformation of the heart and great vessels HP:0002564
Genes (94)

Species:
human : 94
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanMGS100126595Mungen syndrome
img HP RolledUp, OMIM ID: 611376
HumanMMVP3100034705Mitral valve prolapse, myxomatous 3
img HP RolledUp, OMIM ID: 610840
HumanKTWS791122Klippel-Trenaunay-Weber syndrome
img HP RolledUp, OMIM ID: 149000
HumanMMVP2352956myxomatous mitral valve prolapse 2
img HP RolledUp, OMIM ID: 607829
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanB3GALT6126792UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
img HP RolledUp, OMIM ID: 271640
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanG6PC392579glucose 6 phosphatase, catalytic, 3
img HP RolledUp, OMIM ID: 612541
HumanFAM58A92002family with sequence similarity 58, member A
img HP RolledUp, OMIM ID: 300707
HumanZNF46984627zinc finger protein 469
img HP RolledUp, OMIM ID: 229200
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img HP RolledUp, OMIM ID: 277600
HumanCRELD178987cysteine-rich with EGF-like domains 1
img HP RolledUp, OMIM ID: 606217
HumanXYLT264132xylosyltransferase II
img HP RolledUp, OMIM ID: 264800
HumanXYLT164131xylosyltransferase I
img HP RolledUp, OMIM ID: 264800
HumanCFC155997cripto, FRL-1, cryptic family 1
img HP RolledUp, OMIM ID: 605376
HumanSLC29A355315solute carrier family 29 (equilibrative nucleoside transporter), member 3
img HP RolledUp, OMIM ID: 612391
img HP RolledUp, OMIM ID: 602782
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
img HP RolledUp, OMIM ID: 149000
HumanBCOR54880BCL6 corepressor
img HP RolledUp, OMIM ID: 300166
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0006705Abnormality of the atrioventricular valves0self